Ventricular noncompaction and distal chromosome 5q deletion

Am J Med Genet. 1999 Aug 6;85(4):419-23.


We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, Pair 5*
  • Cytogenetics
  • Female
  • Gene Deletion*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Heart Ventricles / pathology*
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Transcription Factors / genetics


  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins
  • NKX2-5 protein, human
  • Transcription Factors